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Schwartz, Ida Vanessa Doederlein
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1

Mortality profile in a cohort of patients with Gaucher dise..:

Teixeira, Lucas ; Randon, Devora ; Poswar, Fabiano.
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108265 , 2024
Link: https://doi.org/10.1016/..
 
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2

An adult with cystathionine beta-synthase deficiency, campt..:

Donis, Karina Carvalho ; Kalil, Marco Antônio Baptista ; Poswar, Fabiano...
Genetics and Molecular Biology.  47 (2024)  1 - p. , 2024
Link: https://doi.org/10.1590/..
 
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3

General overview of urea cycle disorders (UCDs) in Brazil:

Schwartz, Ida Vanessa Doederlein ; dos Santos, Mariana Lopes ; Fink, Isabela Alicia...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108217 , 2024
Link: https://doi.org/10.1016/..
 
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4

Adherence to PKU guidelines among patients with phenylketon..:

Chiesa, Ana ; Spécola, Norma ; Poubel, Monique...
Molecular Genetics and Metabolism Reports.  38 (2024)  - p. 101026 , 2024
Link: https://doi.org/10.1016/..
 
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5

Identification of metabolic pathways and key genes associat..:

Pasqualotto, Amanda ; da Silva, Vinícius ; Pellenz, Felipe Mateus...
Metabolic Brain Disease.  39 (2024)  4 - p. 577-587 , 2024
Link: https://doi.org/10.1007/..
 
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6

Rare diseases diagnosed through neonatal screening: Data fr..:

Milke, Júlia Cordeiro ; de Oliveira, Bibiana Mello ; Schmidt, Amanda Maria...
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108337 , 2024
Link: https://doi.org/10.1016/..
 
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7

Brazilian cohort of patients diagnosed with glucose transpo..:

Sobrinho, Livia ; Refosco, Lilia ; Poswar, Fabiano..
Molecular Genetics and Metabolism.  141 (2024)  4 - p. 108261 , 2024
Link: https://doi.org/10.1016/..
 
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8

Follow-up of pre-motor symptoms of Parkinson's disease in a..:

Wilke, Matheus Vernet Machado Bressan ; Poswar, Fabiano ; Borelli, Wyllians Vendramini...
Orphanet Journal of Rare Diseases.  18 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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9

Dificuldades alimentares em pacientes com Fenilcetonúria:

Rocha, Alexia Diovana Fernandes da ; Martinez, Chenia Caldeira ; Refosco, Lilia Farret...
CoDAS.  35 (2023)  6 - p. , 2023
Link: https://doi.org/10.1590/..
 
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10

GALACTOSE EPIMERASE DEFICIENCY IN LATIN AMERICA – UNVEILING..:

Medeiros, Leonardo Simão ; De Souza, Carolina Fischinger Moura ; Artigalás, Osvaldo...
Molecular Genetics and Metabolism.  138 (2023)  3 - p. 107487 , 2023
Link: https://doi.org/10.1016/..
 
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11

GBA1 variants in Brazilian Gaucher disease patients:

Basgalupp, Suelen Porto ; Altmann, Vivian ; Vairo, Filippo Pinto e...
Molecular Genetics and Metabolism Reports.  37 (2023)  - p. 101006 , 2023
Link: https://doi.org/10.1016/..
 
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12

In vitro substrate reduction, chaperone and immunomodulatio..:

Sperb-Ludwig, Fernanda ; Ludwig, Nataniel Floriano ; Rizowy, Gustavo Mottin..
Genetics and Molecular Biology.  46 (2023)  3 suppl 1 - p. , 2023
Link: https://doi.org/10.1590/..
 
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13

Availability of Genetic Tests in Public Health Services in ..:

de Oliveira, Bibiana Mello ; Neiva, Mariane Barros ; Carvalho, Isabelle...
Public Health Genomics.  , 2023
Link: https://doi.org/10.1159/..
 
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14

Glycogen Storage Disease: Expert Opinion on Clinical Diagno..:

de Marchi, Rafael ; Nalin, Tatiele ; Sperb-Ludwig, Fernanda...
Genes.  14 (2023)  12 - p. 2219 , 2023
Link: https://doi.org/10.3390/..
 
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15

Feeding difficulties in patients with Phenylketonuria:

Rocha, Alexia Diovana Fernandes da ; Martinez, Chenia Caldeira ; Refosco, Lilia Farret...
CoDAS.  35 (2023)  6 - p. , 2023
Link: https://doi.org/10.1590/..
 
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